Inborn genetic diseases

Disease class: Congenital, Hereditary, and Neonatal diseases and abnormalities
Medical specialty: Medical genetics

Types

• adrenal hyperplasia, Congenital
• Alagille syndrome
• alpha 1-antitrypsin deficiency
• anaemia, Haemolytic, Congenital
• anaemia, Hypoplastic, Congenital
• angioedemas, Hereditary
• Ataxia telangiectasia
• Autoimmune lymphoproliferative syndrome
• blood coagulation disorders, Inherited
• Brugada syndrome
• CADASIL
• Camurati-Engelmann syndrome
• cardiomyopathy, Hypertrophic, Familial
• CHARGE syndrome
• Cherubism
• Chromosome disorders
• Ciliopathies
• Costello syndrome
• Cystic fibrosis
• Donohue syndrome
• Dwarfism
• eye diseases, Hereditary
• Familial multiple lipomatosis
• Frasier syndrome
• GATA2 deficiency
• genetic diseases, X-linked
• genetic diseases, Y-linked
• Graves ophthalmopathy
• Hajdu-Cheney syndrome
• Haemoglobinopathies
• Hereditary Autoinflammatory diseases
• heredodegenerative disorders, Nervous system
• Hyper-IgM immunodeficiency syndrome
• hyperthyroxinemia, Familial dysalbuminemic
• Kallmann syndrome
• Kartagener syndrome
• Lennox Gastaut syndrome
• Loeys-Dietz syndrome
• Marfan syndrome
• metabolism, Inborn errors
• Muscular dystrophies
• myasthenic syndromes, Congenital
• Nail-Patella syndrome
• neoplastic Syndromes, Hereditary
• Oculocerebrorenal syndrome
• Orofaciodigital syndromes
• osteoarthropathy, Primary Hypertrophic
• Osteochondrodysplasias
• Osteogenesis imperfecta
• pain Insensitivity, Congenital
• Pelger-Huet anomaly
• Pycnodysostosis
• skin diseases, Genetic
• Werner syndrome
• Yellow Nail syndrome